ClinVar Miner

Submissions for variant NM_006118.4(HAX1):c.676C>T (p.Arg226Cys)

gnomAD frequency: 0.00005  dbSNP: rs765780829
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001242508 SCV001415601 uncertain significance Kostmann syndrome 2024-11-12 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 226 of the HAX1 protein (p.Arg226Cys). This variant is present in population databases (rs765780829, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with HAX1-related conditions. ClinVar contains an entry for this variant (Variation ID: 967561). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on HAX1 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV004629515 SCV005128489 uncertain significance Inborn genetic diseases 2024-05-29 criteria provided, single submitter clinical testing The c.676C>T (p.R226C) alteration is located in exon 6 (coding exon 6) of the HAX1 gene. This alteration results from a C to T substitution at nucleotide position 676, causing the arginine (R) at amino acid position 226 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001242508 SCV002085834 uncertain significance Kostmann syndrome 2020-07-23 no assertion criteria provided clinical testing

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